Genetic thrombophilic mutations among couples with recurrent miscarriage

Jivraj, Shehnaaz; Rai, Raj; Underwood, Jenny; Regan, Lesley

doi:10.1093/humrep/dei466

Cited by 63 publications

(48 citation statements)

References 26 publications

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“…We used the men as the control group, since thrombophilia is a maternal risk factor that leads to adverse pregnancy outcome. Several studies of couples with spontaneous abortions and fertile couples have found no difference in prevalence of thrombophilic mutations between studied groups ( Jivraj et al, 2006;Jauniaux et al, 2006;Rodger et al, 2010).…”

Section: Discussionmentioning

confidence: 83%

Detection of Thrombophilic Mutations Related to Spontaneous Abortions by a Multiplex SNaPshot Method

Madjunkova

Volk

Peterlin

et al. 2012

Genetic Testing and Molecular Biomarkers

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Spontaneous abortion is a significant clinical problem of different etiologies. Certain thrombophilia gene mutations have been associated with an increased risk of spontaneous abortion. Also, mutations in folate-related genes can lead to abnormal chromosomal segregation during meiosis which is the most common cause of spontaneous abortion. We have developed a multiplex single-base extension reaction assay that allows simultaneous analysis of 10 different mutations in thrombophilia-and folate-related genes (Factor V Leiden G1691A, Factor V H1299R, Factor II G20210A, Factor XIII V34L, PAI-I -675 4G/5G, FGB -455G/A, MTHFR C677T, MTHFR A1298C, MTR A2756G, and MTRR A66G). Using this method we have studied 232 women who had a spontaneous abortion and 209 of their male partners. Prevalence of Factor II G20210A and Factor V H1299R mutations was significantly higher in the women than in their male partners (2.4% and 0.7%, respectively [p = 0.0499] for the Factor II mutation and 9.3% and 5.7%, respectively [p = 0.0485] for the Factor V mutation). The prevalence of MTHFR C677T, MTHFR A1298C, MTR A2756G, and MTRR A66G mutations did not differ between the studied groups. In conclusion, we have developed a rapid, simple, reliable, and inexpensive multiplex SNaPshot method for determination of 10 thrombophilic mutations that may result in spontaneous abortions.

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Section: Discussionmentioning

confidence: 83%

Detection of Thrombophilic Mutations Related to Spontaneous Abortions by a Multiplex SNaPshot Method

Madjunkova

Volk

Peterlin

et al. 2012

Genetic Testing and Molecular Biomarkers

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“…For this reason, many authors have chosen to examine separately the impact of hereditary thrombophilia on each trimester of pregnancy. Controlled studies conducted in the European Caucasian women with a history of unexplained RM failed to demonstrate an association between these two polymorphisms and 1st trimester RM [19,39]. The meta-analyses that have adopted this methodology has also revealed a higher ratio of FLV related losses after the 14th week (OR 2.28) compared with 1st trimester RM (OR 1.6-1.91) [20,26,27,40].…”

Section: In a Controlledmentioning

confidence: 99%

“…Data accumulated over the past two decades have established a clear association between antiphospholipid syndrome (APS), an acquired thrombophilic state, and RM [11][12][13][14][15]. Recent investigations have focused on a higher prevalence of certain inherited thrombophilias, such as factor V Leiden (FVL) and prothrombin (PT) G20210A mutations, in women with unexplained recurrent pregnancy losses [16][17][18][19][20][21]. Nevertheless, these reports have produced conflicting results [22][23][24][25] and this heterogeneity is reflected in existing meta-analyses [17,20,26,27].…”

Section: Introductionmentioning

confidence: 99%

Factor V Leiden and prothrombin G20210A in Portuguese women with recurrent miscarriage: is it worthwhile to investigate?

Serrano

Lima

Lopes

et al. 2011

Arch Gynecol Obstet

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Objective To compare the prevalence of factor V Leiden (FVL) and prothrombin (PT) G20210A mutations in Portuguese women with unexplained recurrent miscarriage (RM) and a control group of parous women. Materials and methods FVL and PT G20210A analysis were carried out in 100 women with three or more consecutive miscarriages and 100 controls with no history of pregnancy losses. Secondary analysis was made regarding gestational age at miscarriage (embryonic and fetal losses). Results Overall, the prevalence of FVL and PT G20210A was similar in women with RM (5 and 3%) compared with controls (5 and 1%) OR 1.36 (CI 95% 0.45-4.08). In RM embryonic subgroup, PT G20210A was observed in 1.3% of women and FVL prevalence (2.6%) was inclusively lesser than that of controls. Both polymorphisms were more prevalent in women with fetal losses than in controls, although statistical significance was not reached due to the small size of the [10 weeks' subgroup. Conclusion These data indicate that neither FVL nor PT G20210A is associated with RM prior to 10 weeks of gestation. Therefore, its screening is not indicated as an initial approach in Portuguese women with embryonic RM and negative personal thromboembolic history.

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“…The study quality may have been affected by differences in the methodological aspects, such as the inclusion of participants with other potential underlying causes of RM or the lack of stratification based on the ethnicity and gestational age of loss of patients (Vettriselvi et al, 2008;Ayadurai et al, 2009). RM is a multifactorial entity; therefore, the variations in the strength of the association between various polymorphisms and RM seen in different studies may be indicative of additional risk factors (Jivraj et al, 2006;Hussein et al, 2010). Therefore, we attempted to diminish these potential biases in this study by selectively including patients with RM that was unexplained during the first trimester.…”

Section: Discussionmentioning

confidence: 99%

Association between the thrombophilic polymorphisms MTHFR C677T, Factor V Leiden, and prothrombin G20210A and recurrent miscarriage in Brazilian women

Gonçalves¹,

Fraga²,

Santos³

et al. 2016

Genet. Mol. Res.

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ABSTRACT. Some cases of recurrent first trimester miscarriage have a thrombotic etiology. The aim of this study was to investigate the prevalence of the most common thrombophilic mutations -factor 2 R.O. Gonçalves et al. Genetics and Molecular Research 15 (3): gmr.15038156 V (FV) Leiden G1691A (FVL), prothrombin (FII) G20210A, and methylenetetrahydrofolate reductase (MTHFR) C677T -in women with recurrent miscarriages. In this case-control study, we included 137 women with two or more consecutive first-trimester miscarriages (£12 weeks of gestation) and 100 healthy women with no history of pregnancy loss, and with at least one living child. DNA was extracted from the patient samples, and the relevant genes (FVL, FII, and MTHFR) were amplified by PCR, followed by restriction fragment length polymorphism, to assess the polymorphisms in these genes. The allelic frequencies of polymorphisms were not significantly different between the case and control groups. Polymorphisms in the MTHFR, FVL, and FII genes were not associated with recurrent miscarriage during the first trimester of pregnancy in Brazilian women (P = 0.479; P = 0.491 and P = 0.107, respectively). However, the etiologic identification of genetic factors is important for genetic counseling.

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Genetic thrombophilic mutations among couples with recurrent miscarriage

Abstract: The prevalence of thrombophilic mutations is similar in couples with RM and parous controls. In couples with RM, multiple genetic thrombophilic mutations in either partner significantly increases the risk of miscarriage in a subsequent pregnancy.

Cited by 63 publications

References 26 publications

Detection of Thrombophilic Mutations Related to Spontaneous Abortions by a Multiplex SNaPshot Method

Detection of Thrombophilic Mutations Related to Spontaneous Abortions by a Multiplex SNaPshot Method

Factor V Leiden and prothrombin G20210A in Portuguese women with recurrent miscarriage: is it worthwhile to investigate?

Association between the thrombophilic polymorphisms MTHFR C677T, Factor V Leiden, and prothrombin G20210A and recurrent miscarriage in Brazilian women

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